VII型胶原NC1结构域中的新生错义突变导致营养不良性大疱性表皮松解症。 - Suppr

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超能文献

A de novo missense mutation in the NC1 domain of type VII collagen leads to dystrophic epidermolysis bullosa.

作者信息

Cheng Ping, Wu Yingda, Zhang Wanlu, Zhang Yuanyuan, Jia Weixue, Li Chengrang

机构信息

Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, China.

Department of Dermatology, the First Affiliated Hospital of Bengbu Medical College, Bengbu, China.

出版信息

Postepy Dermatol Alergol. 2022 Jun;39(3):623-626. doi: 10.5114/ada.2022.117525. Epub 2022 Jul 14.

DOI:10.5114/ada.2022.117525

PMID:35950135

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9326925/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f53d/9326925/38c6ca98fd1e/PDIA-39-47324-g001.jpg

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Epidermal aspects of type VII collagen: Implications for dystrophic epidermolysis bullosa and epidermolysis bullosa acquisita.VII 型胶原的表皮方面：对营养不良性大疱性表皮松解症和获得性大疱性表皮松解症的影响。

J Dermatol. 2018 May;45(5):515-521. doi: 10.1111/1346-8138.14222. Epub 2018 Jan 20.

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